Varaico: Literature-Extracted Genetic Variants

NLRP12

334 papers

RefSeq Summary

This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminu...

Pfam Domains

PYRINaa 12–87UCSCPAAD/DAPIN/Pyrin domain

FISNAaa 129–201UCSCFish-specific NACHT associated domain

NACHTaa 211–381UCSCNACHT domain

WHD_NOD2aa 459–512UCSCNOD2 winged helix domain

NLRC4_HD2aa 514–628UCSCNLRC4 helical domain HD2

LRR_6aa 768–791UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

NLR family pyrin domain containing 12

HGNC Previous Symbol

NALP12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_144687.4

p.T605P

c.1813A>C

Surrounding Variants

1 paper

NM_144687.4

p.D602N

c.1804G>A

1 paper

NM_144687.4

p.L611_E612ins4

c.1831_1835ins12

1 paper

NM_144687.4

p.E612K

c.1834G>A

1 paper

NM_144687.4

p.S597G

c.1789A>G

1 paper

NM_144687.4

p.Q593H

c.1779G>T

1 paper

NM_144687.4

p.Q593H

c.1779G>C

1 paper

NM_144687.4

p.L591P

c.1772T>C

7 papers

NM_144687.4

p.Y618*

c.1854C>G

6 papers

NM_144687.4

p.Y618*

c.1854C>A

2 papers

NM_144687.4

p.E619Q

c.1855G>C

3 papers

NM_144687.4

p.L591M

c.1771C>A

1 paper

NM_144687.4

p.I587I

c.1761C>T